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A group of researchers from different centers and universities in Spain —seven of which are located in Catalonia— have sequenced the complete genome of patients with chronic lymphocytic leukemia and identified mutations that give us new clues to this illness.

This work is Spain’s first contribution to the International Cancer Genome Consortium (ICGC), the largest cancer research project in history, which includes scientists from 11 countries working to sequence the 50 most important types of cancer.

The study, published in the journal Nature, is headed by doctors Elías Campo, from Hospital Clinic and the University of Barcelona, and Carlos López-Otín, from the University of Oviedo, with the participation of more than 60 researchers from the Spanish Chronic Lymphocytic Leukemia Genome Consortium. They presented their results this morning at the Ministry of Science and Innovation in Madrid, alongside Minister Cristina Garmendia.

“Chronic lymphocytic leukemia is the most common type of leukemia in the western world, with more than one thousand new patients diagnosed each year in our country,” explains Elías Campo. The disease is known to be caused by the uncontrolled proliferation of B-lymphocytes. “However, it is not known which mutations trigger the disease,” says Campo.

In this work, researchers have used cutting-edge technology to sequence the three billion nucleotides in the complete genome of tumor cells in four patients and have compared the sequence with healthy cells from the same individuals.

“This approach has allowed us to verify that each tumor has suffered three thousand mutations in its genome,” specifies Carlos López-Otín. “Further analysis of the mutated genes in a group of more than 300 patients identified four genes whose mutations trigger the development of this type of leukemia,” reveals the researcher.

Breakthroughs in knowledge regarding the molecular biology of cancer in recent decades have established that it is an illness caused by the accumulation of genetic damage in normal cells, but so far identifying these changes has been a slow and laborious process. However, thanks to the latest gene-sequencing equipment, like that available to scientists at the National Center for Genome Analysis (CNAG), this process has accelerated and this center can now sequence up to six human genomes in one day.

Analyzing the volume of data generated in this project has required new specialized programs. The software tool developed by the University of Oviedo for this purpose is called Sidrón, which has been essential to identifying mutations present in tumor genomes.

Furthermore, the work on chronic lymphocytic leukemia carried out over several decades at Barcelona’s Hospital Clinic has given the consortium access to DNA and clinical data from hundreds of patients, which has added a clinical dimension to this genomic study.

Consortium Member Institutions

The Spanish Chronic Lymphocytic Leukemia Genome Consortium is made up of a dozen institutions: Barcelona's Hospital Clínic; the University of Oviedo Oncology Institute; the University of Barcelona; the Institute for Biomedical Investigation August Pi i Sunyer (IDIBAPS); the Barcelona Center for Genomic Regulation (CRG); the Bellvitge Biomedical Research Institute-Catalan Institute of Oncology; the Salamanca University Hospital and Cancer Research Center; the National Cancer Research Center; the University of Deusto; the University of Santiago de Compostela; the Barcelona Supercomputing Center (BSC) and the National Center for Genome Analysis (CNAG).
The Spanish consortium also worked with the Wellcome Trust Sanger Institute in Hinxton (United Kingdom).

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